Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study

摘要

BackgroundFabry disease is caused by a deficient or an absent alfa‐galactosidase A activity and is an X‐linked disorder that results in organ damage and a shortened life span, especially in males. The severity of the disease depends on the type of mutation, gender, skewed X‐chromosome inactivation, and other still unknown factors.